ReviewDiagnostics (Basel, Switzerland)2021
46,XX DSD: Developmental, Clinical and Genetic Aspects.
Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 49 citations in OpenAlex.
- Article
- Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency.Endocrinology, diabetes & metabolism · 2026Article
- Spectrum of disorders of sexual development in Duhok, Iraq (2012-2022): molecular and clinical profile with surgical outcomes.Hormone molecular biology and clinical investigation · 2026Article
- Challenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in IndonesiaJournal of clinical research in pediatric endocrinology · 2026Article
- Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.The Journal of clinical endocrinology and metabolism · 2026Article
- Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia.Frontiers in endocrinology · 2026Article
- Ovotesticular disorder of sex development presenting as gynecomastia in a phenotypic male adolescent: a case report and literature insights.Hormone molecular biology and clinical investigation · 2025Review
- Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.Annals of pediatric endocrinology & metabolism · 2025Article
- Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.Reproductive biology and endocrinology : RB&E · 2024Article
- Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development.Biomedicines · 2024Article
- 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.Frontiers in endocrinology · 2024Review
- The genetics and hormonal basis of human gender identity.Archives of endocrinology and metabolism · 2024Review
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
- XX Male: Early Detection With Prenatal Testing.Cureus · 2023Article
- Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.Endocrine connections · 2023Article
- Determination of Barr bodies in Transgender Patients in India - A comparative study.Journal of oral and maxillofacial pathology : JOMFPArticle
- An offbeat presentation of primary male infertility: de la Chapelle syndrome.Medical journal, Armed Forces IndiaArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Differences in sex development (DSD) in patients with 46,XX karyotype occur by foetal or postnatal exposure to an increased amount of androgens. These disorders are usually diagnosed at birth, in newborns with abnormal genitalia, or later, due to postnatal virilization, usually at puberty. Proper diagnosis and therapy are mostly based on the knowledge of normal development and molecular etiopathogenesis of the gonadal and adrenal structures. This review aims to describe the most relevant data that are correlated with the normal and abnormal development of adrenal and gonadal structures in direct correlation with their utility in clinical practice, mainly in patients with 46,XX karyotype. We described the prenatal development of structures together with the main molecules and pathways that are involved in sex development. The second part of the review described the physical, imaging, hormonal and genetic evaluation in a patient with a disorder of sex development, insisting more on patients with 46,XX karyotype. Further, 95% of the etiology in 46,XX patients with disorders of sex development is due to congenital adrenal hyperplasia, by enzyme deficiencies that are involved in the hormonal synthesis pathway. The other cases are explained by genetic abnormalities that are involved in the development of the genital system. The phenotypic variability is very important in 46,XX disorders of sex development and the knowledge of each sign, even the most discreet, which could reveal such disorders, mainly in the neonatal period, could influence the evolution, prognosis and life quality long term.
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